ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826607860
Gene: BFSP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2849469
ClinVar RCV Id:
RCV003616744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265535.1:p.Glu487Lys
CA9771970
NM_001278606.2:c.1459G>A